Variant report

Variant	rs2299355
Chromosome Location	chr7:103300835-103300836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103299093..103302989-chr7:103306962..103309461,4	K562	blood:
2	chr7:103297074..103301566-chr7:103303216..103306956,8	K562	blood:
3	chr7:103299107..103301619-chr7:103313448..103316125,2	K562	blood:
4	chr7:103298022..103299710-chr7:103300574..103302831,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10245257	0.80[JPT][hapmap]
rs12705138	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223067	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073556	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2073557	0.82[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2191702	0.80[JPT][hapmap]
rs2237631	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.99[ASN][1000 genomes]
rs2283022	1.00[ASW][hapmap];0.82[CEU][hapmap];0.81[GIH][hapmap];0.92[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2299356	0.81[GIH][hapmap]
rs2299357	0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961793	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2299355	ZKSCAN5	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103288800-103301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:103298200-103305000	Enhancers	HepG2	liver
3	chr7:103300600-103303200	Enhancers	Hela-S3	cervix
4	chr7:103300800-103301000	Enhancers	Liver	Liver
5	chr7:103300800-103301200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:103300800-103301400	Enhancers	Fetal Heart	heart
7	chr7:103300800-103301600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:103300800-103301600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:103300800-103301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:103300800-103301600	Enhancers	Fetal Intestine Small	intestine
11	chr7:103300800-103301600	Enhancers	HSMM	muscle
12	chr7:103300800-103301600	Enhancers	NH-A	brain
13	chr7:103300800-103301600	Enhancers	NHDF-Ad	bronchial
14	chr7:103300800-103301600	Enhancers	NHLF	lung
15	chr7:103300800-103301800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:103300800-103301800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:103300800-103301800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:103300800-103301800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:103300800-103301800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:103300800-103301800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:103300800-103301800	Enhancers	HUVEC	blood vessel
22	chr7:103300800-103302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:103300800-103302000	Enhancers	A549	lung
24	chr7:103300800-103302000	Enhancers	HMEC	breast
25	chr7:103300800-103302000	Genic enhancers	K562	blood

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